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Article

Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians.

Movement disorders : official journal of the Movement Disorder Society - 1 Sept 2002

Subramony S H, Hernandez Dena, Adam Amanda, Smith-Jefferson Stephanie, Hussey Jennifer, Gwinn-Hardy Katrina, Lynch Timothy, McDaniel Olga, Hardy John, Farrer Matt, Singleton Andrew

Abstract excerpt

We describe several families of African origin with SCA3/Machado-Joseph disease gene expansions. In these cases, the phenotype ranges from ataxia with parkinsonian signs to a syndrome clinically almost indistinguishable from idiopathic, L-dopa-responsive Parkinson's disease. In contrast, these parkinsonian phenotypes are rare in those of European descent. Haplotype analysis shows that these African families do...

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Identifiers

PMID: 12360561
DOI: 10.1002/mds.10241

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians.PMID 12360561Read ↗

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Promoter Variant Alters Expression of the Autophagic BECN1 Gene: Implications for Clinical Manifestations of Machado-Joseph Disease.Semantic proximity Read ↗

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